Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894369
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.800 1.000 12 1996 2017
dbSNP: rs104894368
rs104894368
MYL2
0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.800 1.000 8 1996 2017
dbSNP: rs104894363
rs104894363
MYL2
1.000 0.080 12 110919160 missense variant C/T snv 3.7E-04 2.0E-04
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.800 1.000 0 1996 2003
dbSNP: rs104894370
rs104894370
MYL2
1.000 0.080 12 110919145 missense variant A/G snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.800 1.000 0 1996 2017
dbSNP: rs121913658
rs121913658
MYL2
1.000 0.080 12 110913316 missense variant G/A;C snv 4.0E-06
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.800 1.000 0 1996 2017
dbSNP: rs104894369
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.740 1.000 13 1998 2019
dbSNP: rs104894368
rs104894368
MYL2
0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 11 1996 2016
dbSNP: rs397516406
rs397516406
MYL2
0.925 0.040 12 110911093 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 3 2008 2018
dbSNP: rs199474813
rs199474813
MYL2
1.000 0.080 12 110911176 splice acceptor variant C/A;G;T snv 4.0E-06; 4.8E-05; 4.0E-06
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 1.000 3 2001 2016
dbSNP: rs587782965
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 1.000 3 2011 2017
dbSNP: rs199474814
rs199474814
MYL2
1.000 0.040 12 110911094 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 2 2008 2013
dbSNP: rs397516407
rs397516407
MYL2
0.925 0.080 12 110911090 missense variant T/C;G snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 1.000 2 2011 2014
dbSNP: rs104894368
rs104894368
MYL2
0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		0.700 1.000 1 2016 2016
dbSNP: rs104894369
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs143139258
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		0.700 0
dbSNP: rs1566147422
rs1566147422
MYL2
12 110911146 frameshift variant AG/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516398
rs397516398
MYL2
1.000 0.040 12 110914267 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397516399
rs397516399
MYL2
1.000 0.040 12 110914200 missense variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397516407
rs397516407
MYL2
0.925 0.080 12 110911090 missense variant T/C;G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397516408
rs397516408
MYL2
0.925 0.080 12 110919117 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397516408
rs397516408
MYL2
0.925 0.080 12 110919117 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs587782965
rs587782965
MYL2
0.882 0.080 12 110914221 missense variant G/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0